Sejal's EURORDIS Winter School blog

March 2019

Sejal Thakrar (Smile with Shiv and Patient Advocacy Support Officer for Duchenne UK) attended the EURORDIS Winter School in Paris last week.

Sejal has written a blog about the course:  

Last week, I attended the EURORDIS Winter School in Paris. EURORDIS is a non-governmental, patient-driven alliance of patient organisations representing 837 rare disease organisations in 70 countries! They are the voice of 30 million people affected by rare diseases throughout Europe.

The focus of this years’ Winter School was “Scientific Innovation and Translational Research for Rare Diseases.”

I was honoured and humbled to be one of the 30 selected applicants from the 137 that applied. I am now officially a 2019 EURORDIS Winter School Graduate – awarded after a week of training and numerous hours of pre-course online training.

I walked away from the course with sentiments of gratitude, hope, but also despair around Brexit and the realisation that although Duchenne Muscular Dystrophy (DMD) has come a long way, there is still a lot more to do to get to where we all want.

After covering a comprehensive history of genetics and a presentation on translational research, I had further feelings of gratefulness, appreciation and admiration for all the hard work and dedication of so many of the world’s scientists, patient organisations, charities, clinicians, industry organisations and individuals who have worked so hard and are still working tirelessly to understand DMD and find an effective treatment or cure.

It was clear to see that decades of work had not only resulted in an accurate diagnosis of DMD but has also led to an increase in the quality of life and life expectancy for those living with DMD. This work is the reason potential treatments are being developed and tested in clinical trials today.    

Efforts to develop a treatment or cure have advanced significantly through the combined efforts of patient advocacy groups, charities, scientists, industry and bodies like EURORDIS over the years.

As hard as it may sometimes feel, we have a lot to be thankful for in the world of Duchenne in recent years - A conditional approval for Translarna and a managed access scheme for Raxone in the UK and Exondys 51 in the US.

The future…? As a parent of a child with DMD - the goal, as will be the case for everyone, is to have an effective treatment to drastically slow down the progression of the condition or ultimately have a cure that will end Duchenne for all those who live with it!

Drug repurposing was one of the topics that was discussed on the course - allowing a quicker, cheaper and an effective accessible route to developing potential treatments in rare diseases. I felt extremely optimistic knowing that Duchenne UK are using drug repurposing as one of their strategies to find potential new treatments for the underlying symptoms of DMD - one of them being the use of a breast cancer drug called ’Tamoxifen’, which is currently being tested on DMD patients in a clinical trial.

I learnt more about the science behind CRISPR, and was pleased to hear that Gene Therapy treatments are also being developed for other rare diseases as well as DMD – we can hopefully share expertise and learn experiences from others in the field.

Initial results for gene therapy in DMD patients are promising and they do fill me with positivity, however, during the course I started to find myself focusing on the inevitable challenges - getting Gene Therapy to all those living with DMD was one. The reason being is that some patients living with DMD may have pre-existing antibodies to the virus which is being used to deliver the therapy. There are also challenges with manufacturing enough of the viruses and the therapy to ensure all those who need the treatment can have it. Gene Therapy in DMD is very complex. Due to its nature, we would need vast volumes of the virus to have a beneficial effect throughout all the muscles in the body compared to other rare conditions that need much less (like genetic eye conditions).

Technologies such as CRISPR also have their challenges. It is important to understand the potential off-target ‘cutting’ errors and the potential effects and possible immune response issues to the therapy.

Despite this, it is great to see that we have not one but three clinical trials currently taking place for Gene Therapy which is incredibly encouraging, even with the challenges that whirled around in my head.

With regards to other clinical trials for DMD, it is exciting that so many potential therapies for DMD are actually in clinical trial phases. However, work still needs to be done to improve and understand the most relevant outcome measures. This will help to prove if a drug is working or not. Although outcome measures in DMD appear to be evolving, the Six-Minute Walk Test (6MWT), the North Star Ambulatory Assessment (NSAA) and/or the four-stair climb are mostly used as primary endpoints for outcome measures - these have their limitations.

There was a lot of focus on data in rare diseases and the importance of natural history data was one topic that was discussed. Natural history data helps the drug development process through better understanding the natural progression of rare diseases, this information can then be used to assist the approval process. Data seems to be the ‘hot topic’ in so many industries and it seems the same in the rare disease area.

The importance of patient registries in rare diseases was another topic discussed. Patient registries contribute to understanding the natural history of a disease. They can be used to provide information necessary for clinical trial design, help with clinical trial recruitment and they can assist in improving patient care. The discussions highlighted the important role of the patient/caregiver in ensuring the data in the registries is of good quality and is frequently updated.

I am aware that many projects are underway to address the challenges and hurdles. However, these projects need time and money. Time is of the essence and with the importance of funding we need to ensure that they go to those who are recognising these challenges, adopting the strategies such as drug repurposing and are investing the time and money in the right direction.

As I mentioned, during the course I could not help but worry about Brexit. It played heavily on my mind. There is so much expertise in Europe (including the UK) in rare disease medicines, regulations and funding access. Europe has infrastructures in place through European Research Networks (ERNs) that support improved diagnosis and opportunities to take part in research for both patients in the UK and Europe. Patients in the UK and European Union (EU) benefit from UK’s participation in ERNs as they share expertise and research. Will we still be part of this? What will be the impact on us as a community in accessing research in Europe? But not just us, what about those with rare diseases who are accessing our healthcare system for life saving treatments within Europe? What about future funding? In the past 5 years, more than €22million has been invested in DMD research through the EU’s FP7 and Horizon 2020 programmes. Will UK still be a part of this?

Whilst on the course I was devastated to hear that a good friend and now (saddened to say) a former European Medicines Agency (EMA) patient representative was told that she could no longer represent the needs of patients at EU level. This purely because she does not reside within what will be the EU! Years of training, networking and advocating lost. This expertise is required and is key to accessing potential therapies for DMD. Brexit continues to negatively impact us, there is so much uncertainly and this is only the beginning!

There are many challenges and hurdles to overcome before we can eradicate Duchenne muscular dystrophy.

However, it is true to say that we are at an exciting time within Duchenne, so much knowledge, hard work, dedication and commitment by many over the years has led us to the here and now.

I believe that collaboration, learning, sharing, advocating and funding will get us there.

I would like to say a big thank you to all the organisers at EURORDIS, the presenters and my fellow EURORDIS Winter School Alumni for giving me the opportunity to further my understanding of rare diseases and provide me with further knowledge required to advocate as a caregiver for a child with a rare disease and help make a difference to those living with Duchenne! It has also given me the opportunity to make new friends.

It was so humbling to meet those advocating for other rare diseases, these that either impact themselves, their loved ones or patients they work with on a daily basis. All of us in some shape or form are fighting a battle!  

Thank you for taking the time to read!

Sejal Thakrar, Smile with Shiv and Patient Advocacy Support Officer for Duchenne UK.  


What is Duchenne Muscular Dystrophy? 
Duchenne Muscular Dystrophy is the most common fatal genetic disease diagnosed in childhood. Children born with DMD cannot produce the protein dystrophin which is vital for muscle strength and function. Muscle weakness starts in early childhood. Many use a wheelchair by around the age of 12. As deterioration continues it leads to paralysis and early death, often in their 20s. It almost exclusively affects boys. There is no treatment or cure. In the UK there are around 2,500 boys affected and around 300, 000 worldwide. It is classified as a rare disease.

Who are Duchenne UK?
Duchenne UK is a lean, ambitious and highly focused charity with a clear vision: to fund and accelerate treatments and a cure for Duchenne muscular dystrophy. The charity has been formed by the coming together of Joining Jack and Duchenne Children's Trust, the two biggest funders of research in the UK in the last three years. Its president is HRH The Duchess of Cornwall. Its patrons include the broadcasters Krishnan Guru-Murthy and Mary Nightingale, and the sports stars Owen Farrell, Kris Radlinski and Andy Farrell. 

How to donate? 
Duchenne UK is entirely reliant on donations to fund research for treatments and a cure to DMD. This can be done via:

For more information and interview requests:
Visit www.duchenneuk.org
Molly Hunt – Communications Manager, Duchenne UK 
E: [email protected]

Published on 29 March 2019

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